ACD (ACD shelterin complex subunit and telomerase recruitment factor)

基因基本信息

基因基本信息

symbol:
ACD
locus group:
protein-coding gene
location:
16q22.1
gene_family:
alias symbol:
Ptop|Pip1|Tpp1|Tint1
alias name:
TIN2 interacting protein 1|POT1 an…
entrez id:
65057
ensembl gene id:
ENSG00000102977
ucsc gene id:
uc002etp.5
refseq accession:
NM_022914
hgnc_id:
HGNC:25070
approved reserved:
2005-01-04

基因染色体位置

基因染色体位置

16q22.1
基因染色体位置图

基因简述

基因简述

ACD（也称为PTOP或TINT1）是端粒保护蛋白复合体（shelterin）的重要组成部分，属于端粒维持相关的基因家族。该基因家族的核心功能是保护染色体末端的端粒结构，防止其被识别为DNA损伤位点，从而维持基因组稳定性。ACD基因编码的蛋白与POT1蛋白直接结合，形成ACD-POT1异源二聚体，这一复合体对端粒的单链DNA（ssDNA）部分具有高亲和力，能有效阻止端粒的异常修复和端粒酶的不必要激活。ACD蛋白的主要作用位点是端粒的3'单链悬垂（G-rich overhang），通过空间位阻和信号屏蔽机制抑制DNA损伤反应通路（如ATM/ATR通路）的激活。若ACD发生功能缺失突变，会导致端粒功能障碍，引发染色体末端融合、基因组不稳定性增加，甚至诱发细胞衰老或凋亡。这类突变与多种疾病相关，包括家族性黑色素瘤（如POT1突变相关的黑色素瘤易感综合征）、骨髓衰竭综合征和某些类型的癌症。当ACD过表达时，可能过度抑制端粒的DNA损伤反应，导致端粒异常延长或肿瘤细胞永生化的风险增加；而表达降低则会使端粒失去保护，加速端粒缩短，促进细胞衰老或凋亡。值得注意的是，ACD与端粒酶活性存在间接调控关系——ACD-POT1复合体通过调控端粒可及性来影响端粒酶的招募效率。该基因所在的端粒保护蛋白家族（shelterin）包括TRF1、TRF2、RAP1、TIN2、TPP1（即ACD）和POT1，这些成员共同形成环状结构包裹端粒DNA，其共性是均含有特异性识别端粒重复序列或蛋白相互作用的结构域，并通过协作实现端粒长度调控、端粒末端保护和端粒位置效应（TPE）的维持。

This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008]

此基因编码参与端粒功能的蛋白质。这种蛋白是在telosome / shelterin端粒复合六个核心蛋白，其功能是维持端粒长度，并保护端粒末端之一。通过其与其他成分的相互作用，这种蛋白在此复合物的组装和稳定了关键作用，并且它介导端粒酶端粒的访问。已发现该基因编码不同亚型的多个抄本变形。这个基因，其也被称为TPP1，是从11号染色体上的无关TPP1基因，其编码三肽肽酶I. [通过的RefSeq，2008年7月提供]鲜明

OMIM数据库中对ACD基因的介绍     Wikipedia数据库中对ACD基因的介绍

基因序列

基因序列

ACD基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

ACD基因的碱基突变：           仅显示部分snp
rs6979       rs14920       rs1050346       rs8058187       rs11555862       rs13331943       rs28521023       rs34097817       rs35356834       rs57602171       rs59443695       rs67114979       rs67185288       rs72547495       rs72547496       rs72547497       rs72547498      

基因表达

基因表达

ACD基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
CTTCTGGATGAAATGCGGG
59
CTGTGGGACATGAACTCGT
60
GTCAGGTACTACAGGACGC
60
GAACTCCTTCTCCTCCCTC
59
CTGCTTGAGGTACTACAGGA
59
GAACTCCTTCTCCTCCCAG
59
AGGAGTTTGTAGGGTTGCC
60
ATACTCATACCAGACAGAGCAG
59
GTCAGGTACTACAGGACGC
60
GAACTCCTTCTCCTCCCTC
59
TTCCTCTTCCGAGGAAAGG
59
TCCTGTAGTACCTCAAGCAG
59
TATGACTGCCTTGAGGAGC
59
CATTTCATCCAGAAGCTGGG
59
TTCCTCTTCCGAGGAAAGG
59
TCCTGTAGTACCTCAAGCAG
59
TCCAATGCAGGCCTATCAC
60
ACAGTGTACACAGCTTCTCC
60
TATGAGTATGAGCCACCCTG
59
CATCAGAAAGTGCAAGGCC
60

转录因子

转录因子

      尚未收录相关数据

基因本体信息

ACD基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

ACD基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0016233
A0A0C4DGT6 (UniProtKB)
IEA
GO:0070187
A0A0C4DGT6 (UniProtKB)
IEA
GO:0000723
Q96AP0 (UniProtKB)
IDA
GO:0000783
Q96AP0 (UniProtKB)
IDA
GO:0000784
Q96AP0 (UniProtKB)
IDA
GO:0000784
Q96AP0 (UniProtKB)
IDA
GO:0000784
Q96AP0 (UniProtKB)
IDA
GO:0000784
Q96AP0 (UniProtKB)
IDA
GO:0000784
Q96AP0 (UniProtKB)
IDA
GO:0001501
Q96AP0 (UniProtKB)
IEA
GO:0001655
Q96AP0 (UniProtKB)
IEA
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005515
Q96AP0 (UniProtKB)
IPI
GO:0005634
Q96AP0 (UniProtKB)
IDA
GO:0005654
Q96AP0 (UniProtKB)
IDA
GO:0005654
Q96AP0 (UniProtKB)
TAS
GO:0005654
Q96AP0 (UniProtKB)
TAS
GO:0005654
Q96AP0 (UniProtKB)
TAS
GO:0005737
Q96AP0 (UniProtKB)
IDA
GO:0006886
Q96AP0 (UniProtKB)
IMP
GO:0007004
Q96AP0 (UniProtKB)
TAS
GO:0016233
Q96AP0 (UniProtKB)
NAS
GO:0016233
Q96AP0 (UniProtKB)
IGI
GO:0016233
Q96AP0 (UniProtKB)
IDA
GO:0016233
Q96AP0 (UniProtKB)
TAS
GO:0016233
Q96AP0 (UniProtKB)
TAS
GO:0030326
Q96AP0 (UniProtKB)
IEA
GO:0031848
Q96AP0 (UniProtKB)
ISS
GO:0032202
Q96AP0 (UniProtKB)
IMP
GO:0032211
Q96AP0 (UniProtKB)
IMP
GO:0032212
Q96AP0 (UniProtKB)
IGI
GO:0035282
Q96AP0 (UniProtKB)
IEA
GO:0042162
Q96AP0 (UniProtKB)
IDA
GO:0044877
Q96AP0 (UniProtKB)
IPI
GO:0051973
Q96AP0 (UniProtKB)
IMP
GO:0051973
Q96AP0 (UniProtKB)
IDA
GO:0060381
Q96AP0 (UniProtKB)
IDA
GO:0070182
Q96AP0 (UniProtKB)
IPI
GO:0070182
Q96AP0 (UniProtKB)
IPI
GO:0070182
Q96AP0 (UniProtKB)
TAS
GO:0070187
Q96AP0 (UniProtKB)
IDA
GO:0070187
Q96AP0 (UniProtKB)
IMP
GO:0070187
Q96AP0 (UniProtKB)
IDA
GO:0070198
Q96AP0 (UniProtKB)
IDA
GO:0070198
Q96AP0 (UniProtKB)
IMP
GO:0070200
Q96AP0 (UniProtKB)
TAS
GO:0070200
Q96AP0 (UniProtKB)
IMP
GO:0016233
R4GMR6 (UniProtKB)
IEA
GO:0070187
R4GMR6 (UniProtKB)
IEA
GO:0005634
R4GNJ5 (UniProtKB)
IDA
GO:0005654
R4GNJ5 (UniProtKB)
IDA
GO:0005737
R4GNJ5 (UniProtKB)
IDA
GO:0016233
R4GNJ5 (UniProtKB)
IEA
GO:0070187
R4GNJ5 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 ACD基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

MINT

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
HOYERAAL-HREIDARSSON SYNDROME 0.120271442 1 0 BeFree_ORPHANET
Cardiovascular Diseases 0.002367032 1 0 GAD
Malignant neoplasm of breast 0.002367032 1 0 GAD
Cerebrovascular Disorders 0.002367032 1 0 GAD
Neuronal Ceroid-Lipofuscinoses 0.001357209 5 0 BeFree
Late-Infantile Neuronal Ceroid Lipfuscinosis 0.001085767 4 0 BeFree
Angle Closure Glaucoma 0.000542884 2 0 BeFree
HIV Infections 0.000542884 2 0 BeFree
Ischemic Cerebrovascular Accident 0.000271442 1 0 BeFree
GLUCOCORTICOID DEFICIENCY 1 0.000271442 1 0 BeFree

基因相关服务

基因相关服务

联系方式

山东省济南市章丘区文博路2号 齐鲁师范学院 genelibs生信实验室

山东省济南市高新区舜华路750号大学科技园北区F座4单元2楼

电话： 0531-88819269

E-mail: product@genelibs.com

微信公众号

关注微信订阅号，实时查看信息，关注医学生物学动态。

版权所有 © 2025.Genelibs 济南弘晖生物技术有限公司 鲁ICP备13024435号-2